This observational study aims to understand the long-term effects of Pompe disease on the brain and nerves in children and teenagers. Researchers want to see if there are any unusual changes in the brain and nerves, and how these changes relate to a child's development. You could be eligible if you are between 0 and 18 years old and have a confirmed diagnosis of infantile Pompe disease (IPD) or late-onset Pompe disease (LOPD). The study will use brain scans (like MRI) to look for these changes. The goal is to learn more about how Pompe disease affects the central nervous system (CNS) in patients receiving enzyme replacement therapy (ERT). This study is currently unclear on its recruitment status.

Study design

This is an observational study planning to enroll 45 participants. It is not testing a specific intervention or drug.

What's involved

You would participate in clinic visits and assessments, including brain imaging (MRI, MRS, DTI), tests for thinking skills, academic skills, speech, language, physical therapy, and muscle ultrasound. Your participation would last for at least 3 years and up to 6 years.

Compensation

Not stated in the trial record.

Follow-up

The primary endpoint, involving neuroimaging, will be measured for up to 6 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.